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9780471351269

Genomic Imprinting and Uniparental Disomy in Medicine Clinical and Molecular Aspects

by ;
  • ISBN13:

    9780471351269

  • ISBN10:

    0471351261

  • Edition: 1st
  • Format: Hardcover
  • Copyright: 2001-10-29
  • Publisher: Wiley-Liss
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Summary

Eric Engel and Stylianos Antonarakis have written the most authoritative and vital reference on molecular and clinical aspects of uniparental disomy (UPD) and genomic imprinting to date. Genomic Imprinting and Uniparental Disomy in Medicine features comprehensive overviews of a multitude of genetic disorders linked to UPD, with a strong emphasis on clinical consequences. This book will provide readers with the tools necessary to identify and treat diseases associated with nontraditional chromosomal inheritance. Genomic Imprinting and Uniparental Disomy in Medicine features handy tables summarizing clinical phenotypes and chromosomal involvement in UPD, as well as clear illustrations on imprinting mechanisms and diagnostic testing. This authoritative, completely up-to-date practical reference will be useful for any clinical geneticist, genetic counselor, physician, or researcher encountering patients with such disorders or studying complex disease mechanisms.

Author Biography

Eric Engel M.D. is Honorary Professor of Medicine at the Geneva University School of Medicine in Geneva, Switzerland. He received his M.D. from the Geneva University School of Medicine in 1951. In the course of his career he has been a Research Fellow and Instructor of Medicine, Harvard Medical School, Professor of Medicine and head of the Genetic Center, Vanderbilt University School of Medicine, and finally, Professor of Medicine and Director of The Medical Institute of Genetics, Geneva University.

Table of Contents

Foreword vii
Preface ix
Acknowledgments xiv
Introduction
1(12)
Detection of Uniparental Disomy and Imprinting by DNA Analysis
13(12)
Mechanisms Generating Uniparently Disomy and Genomic Imprinting Disorders
25(24)
Uniparental Disomy for Individual Human Chromosomes: Review of Cases
49(84)
``Old'' and ``New'' Syndromes with Uniparental Disomy
133(30)
The Prader-(Labhardt)-Willi Syndrome
163(24)
The Angelman Syndrome (AS)
187(23)
The Beckwith-Wiedemann Syndrome (BWS)
210(17)
Genetic Counseling and Prenatal Diagnosis
227(16)
Celia Delozier-Blanchet
Genomic Imprinting in the Mouse
243(28)
Robert Lyle
Epilogue of an Unfinished Story
271(8)
Index 279

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